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DNA Labs India

Glycogen Storage Disorder Gene Panel Test

DNA Labs India | ISO 9001:2015 Certified

Glycogen Storage Disorder Gene Panel Test

Short Name: GSD Gene Panel

Also known as: GSD Gene Panel, Glycogen Storage Disease Gene Panel

Glycogen Storage Disorder Gene Panel Test test available at DNA Labs India for ₹36,000. Uses Next-Generation Sequencing (NGS) on Amniotic fluid/ Chorionic villi/ Peripheral blood samples. Results in 4-6 weeks. Free home collection in 300+ cities across India.

Gene Panel🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose Glycogen Storage Disorder through genetic testing, identify specific mutations, and guide personalized treatment strategies.

Test Code
3022
Price
₹36,000
Sample Type
Amniotic fluid/ Chorionic villi/ Peripheral blood
Result Time
4-6 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

A doctor's prescription is required. Prescription is not applicable for surgery, pregnancy cases, or people planning to travel abroad.

Method: Venipuncture for blood, amniocentesis for amniotic fluid, chorionic villus sampling for chorionic villi

Step 2

Laboratory Analysis

Sample collection is performed by a trained phlebotomist or healthcare professional using sterile techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store samples as instructed for stability.

Timeline: 4-6 weeks

Patient Instructions

1
Before the Test:Obtain a doctor's prescription. No fasting required unless specified by the physician.
2
During the Test:Sample collection involves drawing blood or other fluids as per sample type.
3
After the Test:Resume normal activities. Monitor for any adverse effects from sample collection.

About This Test

Who Should Get This Test

To diagnose Glycogen Storage Disorder through genetic testing, identify specific mutations, and guide personalized treatment strategies.

How to Prepare

  • Use sterile containers for amniotic fluid or chorionic villi
  • For blood, use EDTA vacutainer
  • Transport samples with cool packs

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for Glycogen Storage Disorder can guide personalized treatment and prevent complications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeAmniotic fluid/ Chorionic villi/ Peripheral blood
ContainerSterile container/ Sterile Normal Saline Container/ EDTA Vacutainer
Collection MethodVenipuncture for blood, amniocentesis for amniotic fluid, chorionic villus sampling for chorionic villi

Sample Stability

Store at 2-8°C
Transport within 24 hours of collection
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of genetic mutations associated with Glycogen Storage Disorder.
📊

Positive for pathogenic variant

Confirms diagnosis of GSD; specific type may be identified based on gene mutation.

📊

Negative for pathogenic variant

No mutations detected in tested genes; clinical correlation recommended if symptoms persist.

📊

Variant of uncertain significance

Further testing or genetic counseling may be needed.

⚠️ When to Consult a Doctor:

If symptoms such as low blood sugar, muscle weakness, or enlarged liver persist or worsen, consult a geneticist or specialist for evaluation.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires clinical correlation for diagnosis
  • ⚠Does not cover all types of GSD

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●For invasive samples like amniocentesis, risks include miscarriage or infection

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Frequently Asked Questions

What is Glycogen Storage Disorder?
Glycogen Storage Disorder (GSD) is a group of rare genetic disorders that affect the body's ability to store and break down glycogen, leading to energy metabolism issues.
What are the common symptoms of GSD?
Common symptoms include low blood sugar, muscle weakness, enlarged liver and spleen, delayed growth, and difficulty gaining weight.
How is GSD diagnosed?
GSD is typically diagnosed through genetic testing, such as this gene panel, which identifies mutations in specific genes.
What genes are included in this panel?
The panel tests genes like G6PC, GAA, SLC37A4, PGM1, PHKA1, PHKB, PHKG2, LAMP2, PRKAG2, FBP1, ALDOA, and ALDOB.
What is the cost of the Glycogen Storage Disorder Gene Panel?
The test costs INR 36000, which includes home sample collection across India.
Is home sample collection available?
Yes, free home sample collection is available for online bookings in numerous cities across India.
How long does it take to get the test results?
Results are typically available within 4-6 weeks after sample collection.
What treatment options are available for GSD?
Treatment may include dietary changes, medications, enzyme replacement therapy, or in severe cases, liver transplant.
Is the test covered by insurance?
Coverage depends on your insurance policy; it is not typically covered under government schemes like PMJAY or CGHS.
Do I need a doctor's prescription for this test?
Yes, a doctor's prescription is required, except for surgery, pregnancy cases, or travel abroad.
What are the risks associated with the test?
Risks are minimal for blood draws, but invasive samples like amniotic fluid may carry risks such as infection or miscarriage.
How accurate is the genetic test for GSD?
The test uses advanced NGS technology for high accuracy, but results should be interpreted in clinical context.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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